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A cDNA for a mutagenized human protein C gene where D167F and D172K codon changes (D209F, D214K for pre-pro-peptide) were introduced, was placed in exon 2 in a 3 kb fragment containing the promoter and exons 1 and 2 of the liver-specific transthyretin gene. The mutations create a hyper-activatable form of the enzyme. (J:130271)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
